Mattias Van Heetvelde

Juggling offsets unlocks RNA-seq tools for fast and Scalable differential usage, Aberrant Splicing and Expression Retrieval.

The paper introduces a method to enhance RNA-seq tools for differential usage, aberrant splicing, and expression retrieval by modifying normalization offsets and presents a faster tool for outlier detection.

Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal disease

The paper identifies 11 likely pathogenic 5'UTR variants in IRD genes using a prioritization strategy and functional validation.

CEP162 deficiency causes human retinal degeneration and reveals a dual role inciliogenesis and neurogenesis

The paper shows that CEP162 deficiency causes retinal degeneration by impairing ciliary function, while retaining a role in neurogenesis.

Multi-omics profiling, in vitro and in vivo enhancer assays dissect the cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy

This study identifies cis-regulatory elements and non-coding variants associated with North Carolina macular dystrophy using multi-omics and enhancer assays.